Ryr1^tm1.1Itl
Targeted Allele Detail

Summary

• Symbol: Ryr1^tm1.1Itl
• Name: ryanodine receptor 1, skeletal muscle; targeted mutation 1.1, inGenious Targeting Laboratory
• MGI ID: MGI:5293352
• Synonyms: RyR1-S2844D, Ryr1^tm1.1Igl
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^tm1.1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:176731
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: (C57BL/6NTac x 129S6/SvEvTac)F1

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: A floxed neo cassette and a modified exon 53, in which nucleotide substitution in the amino acid substitution of aspartic acid for serine at position 2844 (S2844D), were inserted into intron 52-53. Cre-mediated recombination removed the neo cassette. (J:176731)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ryr1 Mutation: 214 strains or lines available

References

• Original: J:176731 Andersson DC, et al., Ryanodine receptor oxidation causes intracellular calcium leak and muscle weakness in aging. Cell Metab. 2011 Aug 3;14(2):196-207
• All: 1 reference(s)